Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(38): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0003 a0002c0004t0008g0003	1	92	0.0109	45	c.-79 others(54): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					354		chr14	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	208	0.0048	45	c.517 others(62): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPIPB11_chr16_29376310_29411711	29383984	A A	AAGGGGAG others(38): Show AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp1 HG03209.hp1	a0132 a0132	a0132c0152 a0132c0152	a0132c0152t0001 a0132c0152t0001	a0132c0152t0001g0091 a0132c0152t0001g0091	1	428	0.0023	45	c.947 others(52): Show c.947_948insGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCA CTCCCCT	p.Ala others(58): Show p.Ala316_Pro317insAspAspAsnLeuLysThrProSerGluArgGl nLeuThrProLeu	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3694/6369	947/3486	316/1161			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225372	A A	AAGCGGCC others(38): Show AAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0002 a0014c0030t0002	a0014c0030t0002g0121 a0014c0030t0002g0121	1	145	0.0069	45	c.107 others(54): Show c.1073_1074insAGATGATAATATCAAGACACCTGCCGAGCGTCTGCG GGGGCCGCT	p.Ala others(58): Show p.Ala358_Pro359insAspAspAsnIleLysThrProAlaGluArgLe uArgGlyProLeu	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3816/6292	1073/3417	358/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225384	A A	AAGGGGAG others(38): Show AAGGGGAGTGAGCTGATGCTCGGAAGGTGTCTTGAGATTATCATCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00741.hp1 others(9): Show HG00099.hp2 HG00140.hp1 HG00741.hp1 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG03098.hp1 NA18957.hp1 NA19030.hp2	a0005 a0012 a0015 others(4): Show a0005 a0012 a0015 a0017 a0018 a0058 a0060	a0005c0006 a0012c0016 a0015c0031 others(4): Show a0005c0006 a0012c0016 a0015c0031 a0017c0029 a0018c0028 a0058c0071 a0060c0075	a0005c0006t0002 a0012c0016t0002 a0015c0031t0002 others(4): Show a0005c0006t0002 a0012c0016t0002 a0015c0031t0002 a0017c0029t0002 a0018c0028t0002 a0058c0071t0002 a0060c0075t0002	a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 others(9): Show a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 a0005c0006t0002g0128 a0005c0006t0002g0131 a0012c0016t0002g0137 a0012c0016t0002g0139 a0015c0031t0002g0130 a0017c0029t0002g0138 a0018c0028t0002g0134 a0058c0071t0002g0140 a0060c0075t0002g0129	12	145	0.0828	45	c.106 others(54): Show c.1061_1062insGGATGATAATCTCAAGACACCTTCCGAGCATCAGCT CACTCCCCT	p.Ala others(58): Show p.Ala354_Pro355insAspAspAsnLeuLysThrProSerGluHisGl nLeuThrProLeu	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3804/6292	1061/3417	354/1138			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534044	C C	CGGATGAT others(38): Show CGGATGATAATCTCAAGACACCTCCCGAGTGTCTGGTCACTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01975.hp2 HG01975.hp2	a0032 a0032	a0032c0034 a0032c0034	a0032c0034t0007 a0032c0034t0007	a0032c0034t0007g0011 a0032c0034t0007g0011	1	47	0.0213	45	c.106 others(54): Show c.1061_1062insGGATGATAATCTCAAGACACCTCCCGAGTGTCTGGT CACTCCCCT	p.Ala others(58): Show p.Ala354_Leu355insAspAspAsnLeuLysThrProProGluCysLe uValThrProLeu	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3973/6463	1062/3402	354/1133			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534044	C C	CGGATGAT others(38): Show CGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0004 a0025c0025t0004	a0025c0025t0004g0042 a0025c0025t0004g0042	1	47	0.0213	45	c.106 others(54): Show c.1061_1062insGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCT	p.Ala others(58): Show p.Ala354_Leu355insAspAspAsnLeuLysThrProSerGluArgGl nLeuThrProLeu	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3973/6463	1062/3402	354/1133			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534056	C C	CGGATGAT others(38): Show CGGATGATAATCTCAAGACACCTCCCGAGTGTCTGTTCACTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01975.hp2 HG01975.hp2	a0032 a0032	a0032c0034 a0032c0034	a0032c0034t0007 a0032c0034t0007	a0032c0034t0007g0011 a0032c0034t0007g0011	1	47	0.0213	45	c.107 others(54): Show c.1073_1074insGGATGATAATCTCAAGACACCTCCCGAGTGTCTGTT CACTCCCCT	p.Ala others(58): Show p.Ala358_Pro359insAspAspAsnLeuLysThrProProGluCysLe uPheThrProLeu	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3985/6463	1074/3402	358/1133			chr16	TogoVar
NPTXR_chr22_38813452_38849028	38837845	T T	TTTTTATT others(38): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp2 others(8): Show HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG02738.hp2 HG03239.hp2 HG03942.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 a0001c0001t0001 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(6): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0010g0140 a0001c0004t0001g0028 a0001c0004t0001g0029	11	354	0.0311	45	c.624 others(62): Show c.624+5389_624+5390insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAA		NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding	1/4						chr22	TogoVar
NR0B1_chrX_30299206_30314390	30310839	C C	CTTCCTTC others(38): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03041.hp1 HG03453.hp1 HG02622.hp1 HG03041.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0001 a0001c0002t0001 a0001c0013t0001	a0001c0002t0001g0020 a0001c0013t0001g0053 a0001c0002t0001g0020 a0001c0013t0001g0053	3	322	0.0093	45	c.-14 others(56): Show c.-1477_-1476insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAA		NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding					1450		chrX	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(38): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0191 a0001c0014t0009g0191	1	208	0.0048	45	c.-10 others(66): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTTTTT		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32						chr7	TogoVar
NRROS_chr3_196634694_196667004	196634748	G G	GCTAGAGA others(38): Show GCTAGAGAAGTGGAGGCTGGAGAAGTGGGGGCTGGAGAAGTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01516.hp2 HG01517.hp2 HG01106.hp1 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	3	472	0.0064	45	c.-51 others(56): Show c.-5141_-5140insCTAGAGAAGTGGAGGCTGGAGAAGTGGGGGCTGG AGAAGTGGGGA		NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding					4945		chr3	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(38): Show CACATTTTATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	116	0.0086	45	c.336 others(66): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATATATGTATAAAATGT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(38): Show CACATTTTATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp1 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0011t0015 a0001c0002t0003 a0001c0011t0015	a0001c0002t0003g0099 a0001c0011t0015g0088 a0001c0002t0003g0099 a0001c0011t0015g0088	2	116	0.0172	45	c.336 others(66): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATATATATATAAAATGT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAA others(38): Show AAAGAAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	116	0.0086	45	c.336 others(66): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CCTTCTTTCTTTTCTTTTCTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN3_chr14_78165373_79873291	79257520	G G	GTGGTGGT others(38): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0019 a0001c0003t0012g0019	1	24	0.0417	45	c.326 others(68): Show c.3263-209670_3263-209669insAATGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGT		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79257520	G G	GTGGTGGT others(38): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG01109.hp2 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0005 a0001c0007 a0002c0005	a0001c0007t0002 a0002c0005t0016 a0001c0007t0002 a0002c0005t0016	a0001c0007t0002g0010 a0002c0005t0016g0022 a0001c0007t0002g0010 a0002c0005t0016g0022	2	24	0.0833	45	c.326 others(68): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NTM_chr11_131365615_132341822	131865864	A A	ACACACAT others(38): Show ACACACATGCTACACACACACCTCCCACACTCACACATGCTACATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20300.hp2 HG02451.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0042 a0001c0001t0013g0048 a0001c0001t0001g0042 a0001c0001t0013g0048	2	86	0.0233	45	c.83- others(62): Show c.83-45672_83-45671insCTCACACATGCTACATGCACACATGCTA CACACACACCTCCCACA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131874030	A A	AATATAAT others(38): Show AATATAATATAATATTATATATATATATAATAATATAATATAATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0026 a0001c0002t0005g0026	1	86	0.0116	45	c.83- others(62): Show c.83-37529_83-37528insATATAATATTATATATATATATAATAAT ATAATATAATATATATA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62747244	A A	ATAAAGGC others(38): Show ATAAAGGCCACGTATGACAGACCCACAGCTAACACCACACTCAGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG02559.hp2 others(4): Show HG01081.hp1 HG01255.hp2 HG02559.hp2 HG02615.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0015 a0001c0001t0035 a0001c0001t0048 others(2): Show a0001c0001t0015 a0001c0001t0035 a0001c0001t0048 a0001c0003t0017 a0001c0008t0025	a0001c0001t0015g0289 a0001c0001t0015g0290 a0001c0001t0035g0214 others(4): Show a0001c0001t0015g0289 a0001c0001t0015g0290 a0001c0001t0035g0214 a0001c0001t0048g0213 a0001c0003t0017g0223 a0001c0003t0017g0224 a0001c0008t0025g0152	7	316	0.0222	45	c.715 others(62): Show c.715-7289_715-7245dupCAGACCCACAGCTAACACCACACTCAGT GTAAAGGCCACGTATGA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62747416	C C	CACTCAGT others(38): Show CACTCAGTGTAAAGGCCACGTATGACAGACCCACAGCTAACACCAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0167 a0001c0001t0008g0167	1	316	0.0032	45	c.715 others(62): Show c.715-7245_715-7244insCAGACCCACAGCTAACACCATACTCAGT GTAAAGGCCACGTATGA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NUP153_chr6_17610037_17711925	17702933	C C	CTCACGCC others(38): Show CTCACGCCTGTAATACCAGCACTTTTGGGAGGCTGTGGCGGGTGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00639.hp1 others(32): Show HG00099.hp2 HG00408.hp1 HG00639.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01496.hp1 HG01884.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02922.hp2 HG03239.hp2 HG03579.hp1 HG03704.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18952.hp2 NA18953.hp1 NA18968.hp1 NA18980.hp2 NA18982.hp2 NA18994.hp2 NA19043.hp2 NA19062.hp2 NA19078.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0005 a0010 others(2): Show a0003 a0005 a0010 a0018 a0019	a0003c0004 a0003c0025 a0005c0006 others(4): Show a0003c0004 a0003c0025 a0005c0006 a0005c0017 a0010c0027 a0018c0019 a0019c0018	a0003c0004t0001 a0003c0025t0001 a0005c0006t0001 others(7): Show a0003c0004t0001 a0003c0025t0001 a0005c0006t0001 a0005c0006t0003 a0005c0006t0006 a0005c0006t0010 a0005c0017t0003 a0010c0027t0001 a0018c0019t0003 a0019c0018t0001	a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 others(32): Show a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0294 a0003c0004t0001g0295 a0003c0004t0001g0296 a0003c0004t0001g0297 a0003c0004t0001g0298 a0003c0004t0001g0299 a0003c0004t0001g0301 a0003c0004t0001g0302 a0003c0025t0001g0300 a0005c0006t0001g0279 a0005c0006t0001g0280 a0005c0006t0001g0282 a0005c0006t0001g0286 a0005c0006t0001g0287 a0005c0006t0001g0288 a0005c0006t0001g0289 a0005c0006t0001g0290 a0005c0006t0001g0291 a0005c0006t0001g0292 a0005c0006t0001g0293 a0005c0006t0001g0303 a0005c0006t0001g0304 a0005c0006t0003g0037 a0005c0006t0006g0312 a0005c0006t0006g0313 a0005c0006t0006g0314 a0005c0006t0010g0310 a0005c0006t0010g0311 a0005c0017t0003g0036 a0010c0027t0001g0305 a0018c0019t0003g0035 a0019c0018t0001g0281	35	316	0.1108	45	c.111 others(62): Show c.111+3299_111+3343dupTCCACCCGCCACAGCCTCCCAAAAGTGC TGGTATTACAGGCGTGA		NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	1/21						chr6	TogoVar
NUP210L_chr1_153987690_154160073	154140666	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	290	0.0035	45	c.567 others(60): Show c.567-715_567-714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	4/39						chr1	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(38): Show CCACCACCACCACCACCACCACCACCACCAACAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0049 a0003c0006t0005g0049	1	326	0.0031	45	c.57 others(56): Show c.5713_*5714insTTGTTGTTGTTGTTGTTGGTGGTGGTGGTGGTGG TGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(38): Show CCACCACCACCACCACCACCACCACCACCACCACCAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0011 a0006c0007t0001g0011	1	326	0.0031	45	c.57 others(56): Show c.5713_*5714insTTGTTGTTGTTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(38): Show CCACCACCACCACCACCACCACCACCACCACCACCACCAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0005 a0004c0016t0005	a0004c0016t0005g0190 a0004c0016t0005g0190	1	326	0.0031	45	c.57 others(56): Show c.5713_*5714insTTGTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(38): Show CCACCACCACCACCACCACCACCACCACCACCACCACCACCAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0040 a0006c0007t0001g0040	1	326	0.0031	45	c.57 others(56): Show c.5713_*5714insTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(38): Show ATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	234	0.0043	45	c.590 others(62): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTAT others(38): Show ATTTTTATTTATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	234	0.0043	45	c.590 others(62): Show c.5902+802_5902+803insATTTATTTATTTATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP62CL_chrX_107118427_107211433	107152187	G G	GAATATAT others(38): Show GAATATATATATATATATATTCAGATATATATATATTCAGATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	280	0.0036	45	c.530 others(60): Show c.530+984_530+985insATATATCTGAATATATATATATCTGAATAT ATATATATATATATT		NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8						chrX	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACACATAT others(38): Show ACACATATGTATATATATATAATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	448	0.0022	45	c.7- others(58): Show c.7-519_*7-518insCACACATATATATACGTATATATATTATATAT ATATACATATGTG		NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1						chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115435	G G	GTATATAT others(38): Show GTATATATATATATGTGTATATATATATGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	448	0.0022	45	c.7- others(58): Show c.7-539_*7-538insATATATATATATATACACATATATATATACAC ATATATATATATA		NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1						chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	448	0.0022	45	c.6+ others(58): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATATATATAT		NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1						chr7	TogoVar
NUTM2F_chr9_94313198_94333644	94313212	T T	TTATAATA others(38): Show TTATAATATATTATATAATATATATAATATATTATATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02559.hp1 HG03041.hp1 HG01081.hp1 HG02559.hp1 HG03041.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0021 a0004c0009t0001g0021	3	322	0.0093	45	c.52 others(56): Show c.5252_*5253insTTATATATTATATAATATATTATATATATTATAT AATATATTATA		NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding					4985		chr9	TogoVar
NXN_chr17_794310_984776	806280	T T	TCCCCAGG others(38): Show TCCCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCCCTCCCCGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	242	0.0041	45	c.821 others(62): Show c.821-1034_821-1033insGCGGGGAGGGCTGGGGTGCAGACGGCGG GGGCTGCAGCCCTGGGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7						chr17	TogoVar
NXN_chr17_794310_984776	853723	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	242	0.0041	45	c.361 others(64): Show c.361-27646_361-27645insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	949109	G G	GCCTCCTC others(38): Show GCCTCCTCCTCTCCCCCTGCGGCCTCCTCTCCCCCTCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	242	0.0041	45	c.360 others(64): Show c.360+30209_360+30210insAGGGGGGAGGAGGGGGAGAGGAGGCC GCAGGGGGAGAGGAGGAGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0041 a0001c0003t0003g0041	1	192	0.0052	45	c.161 others(66): Show c.1618+14477_1618+14478insTATATATATATATATATATATATA TATATATATATATATATATAT		NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7						chr2	TogoVar
OBI1_chr13_78609289_78664155	78659312	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	296	0.0034	45	c.-19 others(54): Show c.-193_-192insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTT TTTTTTTTT		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					158		chr13	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAATAT others(38): Show AAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	346	0.0029	45	c.669 others(60): Show c.669+666_669+667insAAATATATATATATATATATATATATATAT ATATATATATATATA		ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF3L2_chr19_458361_479983	473340	C C	CCTGAGCC others(38): Show CCTGAGCCTCCCAGAGATACACGGTCACAGATGGGGAAACTGAGGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA20300.hp1 HG02976.hp2 NA20300.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0010 a0002c0002 a0006c0010	a0002c0002t0002 a0006c0010t0004 a0002c0002t0002 a0006c0010t0004	a0002c0002t0002g0170 a0006c0010t0004g0171 a0002c0002t0002g0170 a0006c0010t0004g0171	2	324	0.0062	45	c.128 others(60): Show c.128-840_128-839insCCCTCAGTTTCCCCATCTGTGACCGTGTAT CTCTGGGAGGCTCAG		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3						chr19	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	306	0.0033	45	c.69+ others(60): Show c.69+5731_69+5732insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT		OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5						chr1	TogoVar
OMA1_chr1_58475719_58551726	58518294	A A	AGAAGGGA others(38): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0056 a0003c0004t0001g0056	1	384	0.0026	45	c.121 others(64): Show c.1215+8966_1215+8967insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTC		OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8						chr1	TogoVar
OMA1_chr1_58475719_58551726	58518299	A A	AGAAGGGA others(38): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0060 a0003c0004t0001g0060	1	384	0.0026	45	c.121 others(64): Show c.1215+8961_1215+8962insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTC		OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8						chr1	TogoVar
OPA1_chr3_193588208_193702811	193596365	A A	ATTTTCTT others(38): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0013 a0002c0008t0013	a0002c0008t0013g0118 a0002c0008t0013g0124 a0002c0008t0013g0118 a0002c0008t0013g0124	2	388	0.0052	45	c.32+ others(60): Show c.32+2982_32+2983insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCT		OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr3	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(38): Show ATACAATACAATACAATACAATACAATACAGTACAGTACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0145 a0001c0001t0008g0145	1	402	0.0025	45	c.-30 others(56): Show c.-3051_-3050insCTGTACTGTACTGTACTGTATTGTATTGTATTGT ATTGTATTGTA		OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding					2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(38): Show GTACAGTACAGTACAGTACAATACAATACAATACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	402	0.0025	45	c.-30 others(56): Show c.-3081_-3080insTTGTATTGTATTGTATTGTATTGTATTGTACTGT ACTGTACTGTA		OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding					2975		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(38): Show GTACAGTACAGTACAGTACAGTACAATACAATACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	402	0.0025	45	c.-30 others(56): Show c.-3081_-3080insTTGTATTGTATTGTATTGTATTGTACTGTACTGT ACTGTACTGTA		OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding					2975		chr10	TogoVar
OPCML_chr11_132409981_133537501	132574245	T T	TTTTTTTT others(38): Show TTTTTTTTTTTTGGTTTTTTTGTTTATTTCTGCTCTAATCTTTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp1 NA18522.hp2 others(1): Show HG03209.hp1 HG03453.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0026	a0001c0001t0006g0006 a0001c0001t0008g0004 a0001c0001t0010g0061 others(1): Show a0001c0001t0006g0006 a0001c0001t0008g0004 a0001c0001t0010g0061 a0001c0001t0026g0053	4	68	0.0588	45	c.380 others(64): Show c.380-45060_380-45059insCACAAAGATTAGAGCAGAAATAAACA AAAAAACCAAAAAAAAAAA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7						chr11	TogoVar
OR11L1_chr1_247835928_247846896	247840331	T T	TCCTCCTT others(38): Show TCCTCCTTCCTTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	394	0.0025	45	c.59 others(54): Show c.596_*597insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAA GGAAGGAGG		OR11L1	ENSG00000197591.3	transcript	ENST00000355784.3	protein_coding					596		chr1	TogoVar

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Search Results (Total: 2640 hits)